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DO Term : nuclear type mitochondrial complex I deficiency 20 [DOID:0112072] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.
  • synonyms:
  • Acyl-CoA dehydrogenase 9 deficiency,
  • 611126,
  • UMLS_CUI:C1970173,
  • SNOMEDCT_US_2023_03_01:725046003,
  • mitochondrial complex 1 deficiency due to ACAD9 deficiency,
  • ORDO:99901,
  • MC1DN20,
  • OMIM:611126,
  • MESH:C567006,
  • ACAD9 deficiency
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